TCF4

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolTCF4
Nametranscription factor 4
Typeprotein-coding
Sourcemygene

Summary

This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat

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This is an externally resolved entity

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